Canonical Allele Identifier: CA2573131948

Gene: AGL

Linked Data

• ClinVar Variation Id: 1638294
• ClinVar RCV Id: RCV002133995
• dbSNP Id: rs2101132679

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99876609_99876610del , CM000663.2:g.99876609_99876610del	GRCh38
NC_000001.10:g.100342165_100342166del , CM000663.1:g.100342165_100342166del	GRCh37
NC_000001.9:g.100114753_100114754del	NCBI36
NG_012865.1:g.31526_31527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1423+12_1423+13del MANE Select	ENSP00000355106.3:n.1423+12_1423+13del
ENST00000637337.1:n.1634+12_1634+13del
ENST00000294724.8:c.1423+12_1423+13del	ENSP00000294724.4:n.1423+12_1423+13del
ENST00000361302.7:c.1375+12_1375+13del	ENSP00000354971.3:n.1375+12_1375+13del
ENST00000361522.4:c.1372+12_1372+13del	ENSP00000354635.4:n.1372+12_1372+13del
ENST00000361915.7:c.1423+12_1423+13del	ENSP00000355106.3:n.1423+12_1423+13del
ENST00000370161.6:c.1375+12_1375+13del	ENSP00000359180.2:n.1375+12_1375+13del
ENST00000370163.7:c.1423+12_1423+13del	ENSP00000359182.3:n.1423+12_1423+13del
ENST00000370165.7:c.1423+12_1423+13del	ENSP00000359184.3:n.1423+12_1423+13del
NM_000028.2:c.1423+12_1423+13del	NP_000019.2:n.1423+12_1423+13del
NM_000642.2:c.1423+12_1423+13del	NP_000633.2:n.1423+12_1423+13del
NM_000643.2:c.1423+12_1423+13del	NP_000634.2:n.1423+12_1423+13del
NM_000644.2:c.1423+12_1423+13del	NP_000635.2:n.1423+12_1423+13del
NM_000645.2:c.1372+12_1372+13del	NP_000636.2:n.1372+12_1372+13del
NM_000646.2:c.1375+12_1375+13del	NP_000637.2:n.1375+12_1375+13del
XM_005270557.1:c.1423+12_1423+13del	XP_005270614.1:n.1423+12_1423+13del
XM_005270557.2:c.1423+12_1423+13del	XP_005270614.1:n.1423+12_1423+13del
NM_000642.3:c.1423+12_1423+13del MANE Select	NP_000633.2:n.1423+12_1423+13del